Canonical Allele Identifier: PA2830149944
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476537
ClinVar RCV Id: RCV000543905 RCV000593713 RCV001329871 RCV002526737
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Glu1706Lys
CA2188590
NM_057167.4:c.5116G>A